rs231976

This is a downstream gene variant variant in the NUPR1 gene.

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

urinary metabolite measurement

Allele G
OR 0.34
p 2.0e-19
N 1,221
Large GWAS

aromatic-l-amino-acid decarboxylase measurement

Allele C
OR 0.04
p 8.0e-15
N 47,745
Large GWAS
European

About NUPR1

Enables DNA binding activity and transcription coactivator activity. Involved in several processes, including negative regulation of programmed cell death; positive regulation of oxidative phosphorylation; and regulation of catabolic process. Acts upstream of or within negative regulation of cell cycle. Located in intercellular bridge; nucleoplasm; and perinuclear region of cytoplasm. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Apr 2025]

View all NUPR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…